Canonical Allele Identifier: CA379471942

Gene: TPP1

Linked Data

• MyVariant Identifiers: chr11:g.6635790A>T (hg19) ; chr11:g.6614559A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6614559A>T , CM000673.2:g.6614559A>T	GRCh38
NC_000011.9:g.6635790A>T , CM000673.1:g.6635790A>T	GRCh37
NC_000011.8:g.6592366A>T	NCBI36
NG_008653.1:g.9903T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.1565T>A	ENSP00000507321.1:p.Leu522Gln
ENST00000299427.12:c.1679T>A MANE Select	ENSP00000299427.6:p.Leu560Gln
ENST00000524611.2:n.718T>A
ENST00000533371.6:c.950T>A	ENSP00000437066.1:p.Leu317Gln
ENST00000642892.1:c.950T>A	ENSP00000494165.1:p.Leu317Gln
ENST00000643342.1:c.752T>A
ENST00000643439.1:c.*1419T>A	ENSP00000495849.1:n.*1419T>A
ENST00000643479.1:n.1865T>A
ENST00000643516.1:c.1188T>A
ENST00000644218.1:c.1490T>A	ENSP00000493574.1:p.Leu497Gln
ENST00000644683.1:c.*1132T>A	ENSP00000494085.1:n.*1132T>A
ENST00000644810.1:c.1400T>A	ENSP00000495895.1:p.Leu467Gln
ENST00000644831.1:n.1855T>A
ENST00000644933.1:c.*545T>A	ENSP00000496133.1:n.*545T>A
ENST00000645285.1:c.*545T>A	ENSP00000495058.1:n.*545T>A
ENST00000645331.1:n.2884T>A
ENST00000645620.1:c.950T>A	ENSP00000493657.1:p.Leu317Gln
ENST00000646691.1:n.1566T>A
ENST00000646777.1:n.2012T>A
ENST00000647016.1:n.2159T>A
ENST00000647152.1:c.950T>A	ENSP00000495893.1:p.Leu317Gln
ENST00000647209.1:c.*1548T>A	ENSP00000495558.1:n.*1548T>A
ENST00000647346.1:n.2699T>A
ENST00000299427.10:c.1679T>A	ENSP00000299427.6:p.Leu560Gln
ENST00000533371.5:c.950T>A	ENSP00000437066.1:p.Leu317Gln
ENST00000611494.4:c.*7T>A	ENSP00000484546.1:n.*7T>A
NM_000391.3:c.1679T>A	NP_000382.3:p.Leu560Gln
NM_000391.4:c.1679T>A MANE Select	NP_000382.3:p.Leu560Gln